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Genetic epilepsy syndromes

Gene: LMNB2

Red List (low evidence)

LMNB2 (lamin B2)
EnsemblGeneIds (GRCh38): ENSG00000176619
EnsemblGeneIds (GRCh37): ENSG00000176619
OMIM: 150341, Gene2Phenotype
LMNB2 is in 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Red.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

AR progressive myoconic epilepsy. Reported on OMIM in 2 sisters in 1 consanguineous family. Only 1 reported case. 4 additional variants on HGMD but in association with lipodystrophy.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Epilepsy, progressive myoclonic, 9, 616540 ; {Lipodystrophy, partial, acquired, susceptibility to}, 608709

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • {Lipodystrophy, partial, acquired, susceptibility to}, 608709
  • ?Epilepsy, progressive myoclonic, 9, 616540
OMIM
150341
Clinvar variants
Variants in LMNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: LMNB2 was added gene: LMNB2 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: LMNB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMNB2 were set to 16826530 Phenotypes for gene: LMNB2 were set to {Lipodystrophy, partial, acquired, susceptibility to}, 608709; ?Epilepsy, progressive myoclonic, 9, 616540